Hurler Syndrome (MPS I)

Inborn Error of Energy Metabolism

Hurler syndrome is an inherited condition caused by a faulty gene. Children with Hurler syndrome lack an enzyme that the body needs to digest sugar. As a result, undigested sugar molecules build up in the body, causing progressive damage to the brain, heart, and other organs. Symptoms most often begin to appear between ages 3 and 8. Children with Hurler syndrome may have unusually large heads, joint stiffness, hearing and vision loss, impaired growth, and other symptoms. The medical name for Hurler syndrome is mucopolysaccharidosis type I.

Maria Escolar, MD

Director, Program for the Study of Neurodevelopment in Rare Disorders

An NIH-funded investigator, Dr. Escolar is internationally known for her work in mucopolysaccharidosis, leukodystrophies, and other white matter diseases of the brain. Her program developed the first neuroimaging tool that predicts the progression of leukodystrophies.

What to Expect

If your child has been diagnosed with Hurler syndrome, we want you to know that you are not alone – the Center for Rare Disease Therapy is here to help. Here’s what you can expect when you come to us for a consultation.

How quickly can we get an appointment?

The Center for Rare Disease Therapy can usually see a new patient within 1 week. To make an appointment, please call Jodie Vento at 412-692-7273 or send an email to rarecare@chp.edu.

How long should we expect our first visit with the doctor to take?

You can expect your first visit to take from 4 to 6 hours. Your child will receive a comprehensive evaluation and may be seen by several other doctors and health care professionals in addition to our expert, Maria Escolar, MD, MS, director of the Program for the Study of Neurodevelopment in Rare Disorders.

What will happen during our first visit?

Your child will receive a comprehensive evaluation to establish or confirm a precise diagnosis and determine how much the disease has progressed. Because we work as a team here at the Center for Rare Disease Therapy, during your visit your child may be seen by several other doctors and health care professionals in addition to Dr. Escolar, including a specialist in genetic diseases, a specialist in brain diseases, a specialist in child development, a hearing specialist, and a physical therapist.

We understand that the whole family is affected when a child has a rare disease. We see each family as our partner in caring for their child. We think the best approach to caring for a child with a rare disease emerges when we combine our depth of experience in rare diseases with your expertise in what’s best for your child.

We will talk with you about what we think is likely to happen with your child in the near future and about options we can suggest for treating and caring for your child. If surgery is an option for your child, we will help you understand what the surgery entails and what you may need to do to prepare for it. We will also talk with you about what you can do at home to care for your child and improve his or her quality of life. Please feel free to ask our specialists any questions you have about your child’s disease, treating and caring for your child, or anything else that is on your mind.

By the end of your visit, you will have a care plan tailored to your child’s needs and an appointment for a follow-up visit in 3 months. You will be introduced to our clinical nurse practitioner, who is available by phone or video conference to help you with any concerns you have between now and your next appointment.

How long might we have to wait for test results?

You can expect to receive a phone call within 2 weeks to explain test results and discuss recommended next steps. Test results are also made available on Children's patient portal, myCHP, which is provided at no cost to patients, parents, and guardians.

Meet Our Patients

Learn how families are finding help and hope through the expertise of the Center for Rare Disease Therapy at Children’s Hospital of Pittsburgh of UPMC.